プロフィール詳細

プロジェクトを作成

★★★★★

☆☆☆☆☆

★★★★★

☆☆☆☆☆

Dr. Antonio F.に依頼

Italy

Researcher in neuroscience and human genetics, expert in cellular mechanisms and disease modeling.

プロフィール概要

I am a neuroscientist and geneticist with extensive experience in neurodevelopmental disorders, cellular mechanisms, and translational research. My work focuses on understanding the molecular and cellular basis of rare and complex neurological diseases, integrating genetics, cellular biology, and advanced experimental models. I have led and collaborated on multiple research projects involving gene function analysis, disease modeling, and therapeutic target identification, with experience in both basic and applied research settings. My expertise includes experimental design, data analysis, and interpretation of results in the context of neurodevelopmental genetics and cellular neuroscience. In addition to my research, I have experience reviewing scientific manuscripts and grant proposals, mentoring students, and collaborating with interdisciplinary teams. I am proficient in translating complex scientific concepts into actionable insights, which is valuable for biotech, pharmaceutical, and investment clients seeking expert guidance in drug discovery, therapeutic development, and emerging technologies in neuroscience and genetics.

専門分野

• ☆ Molecular Biology
• ☆ Genetics
• ☆ Neuroscience
• ☆ Neurophysiology
• ☆ Developmental Neuroscience
• ☆ Pathogenesis
• ☆ Neurology
• ☆ Epilepsy & Seizures

サービス

• Writing
• Research
• Consulting
• Product Development

Writing Non-Medical Regulatory Writing, Newswriting, General Proofreading & Editing, Translation

Research User Research, Feasibility Study, Fact Checking, Gap Analysis, Gray Literature Search, Scientific and Technical Research, Systematic Literature Review

Consulting Scientific and Technical Consulting, Manufacturing Consulting

Product Development Product Evaluation, Product Validation, Concept Development

職務経験

Istituto Giannina Gaslini

- 現在

PostdoctoralResearcher

IRCCS Meyer Children Hospital

5月 2017 - 5月 2023

Post Doctrol Fellow

INSERM

6月 2013 - 4月 2017

Postdoc position

Research Fellow and Project Collaborator at the Laboratory of Experimental Medicine

1月 2010 - 4月 2013

学歴

Ph.D., Pharmacology

Drug Area and Innovative Treatments, University of Florence and Meyer University Hospital

1月 2022 - 1月 2024

PhD Molecular Genetics

Specialization Diploma in Medical Genetics, University of Genoa

2月 2006 - 12月 2009

Masters of Science

Master Degree in Biological Sciences, University of Genoa

1月 2000 - 2月 2005

認定資格

• none

  None

  1月 2026 - 1月 2026

出版物

JOURNAL ARTICLE

Antonio Falace, Léa Corbières, Lucas Silvagnoli, Cristiana Pelorosso, Clara Tuccari di San Carlo, Emmanuelle Buhler, Zeinab Hoteit, Sylvian Bauer, Beatrice Risso, Quenol Cesar, et al. (2025). Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex . Human Molecular Genetics.

Antonio Falace, Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti, Clara Tuccari di San Carlo, Federico Zara, Pasquale Striano (2025). SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights . International Journal of Molecular Sciences.

Antonio Falace, Beatrice Risso, Antonella Riva, Greta Volpedo, Valerio Conti, Clara Tuccari di San Carlo, Federico Zara, Pasquale Striano (2025). <i>SLC35A2</i>-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights . International Journal of Molecular Sciences.

Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio (2024). V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities . Cells.

Antonio Falace, Greta Volpedo, Marcello Scala, Federico Zara, Pasquale Striano, Anna Fassio (2024). V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities . Cells.

Antonio Falace, Caterina Michetti, Fabio Benfenati, Anna Fassio(2022). Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing . Neurobiology of Disease. 173. Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 105856. Elsevier {BV}

Antonio Falace, Anna Fassio, Alessandro Esposito, Davide Aprile, Renzo Guerrini, Fabio Benfenati(2020). Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy . Frontiers in Cellular Neuroscience. 14. Frontiers Media {SA}

Antonio Falace, Alessandro Esposito, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, et al.(2019). Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course . Brain. 142. (12). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 3876--3891. Oxford University Press ({OUP})

Aprile, D., Fruscione, F., Baldassari, S., Fadda, M., Ferrante, D., Falace, A., Buhler, E., Sartorelli, J., Represa, A., Baldelli, P., et al.(2019). TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons . Cell Death and Differentiation.

Guarnieri, F.C., De Chevigny, A., Falace, A., Cardoso, C.(2018). Disorders of neurogenesis and cortical development . Dialogues in Clinical Neuroscience. 20. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 255-266.

Conti, V., Carabalona, A., Pallesi-Pocachard, E., Leventer, R.J., Schaller, F., Parrini, E., Deparis, A.A., Watrin, F., Buhler, E., Novara, F., et al.(2017). A novel strategy combining array-CGH, whole-exome sequencing and in utero electroporation in rodents to identify causative genes for brain malformations . Journal of Visualized Experiments. 2017. (130).

Mosca-Boidron, A.-L., Gueneau, L., Huguet, G., Goldenberg, A., Henry, C., Gigot, N., Pallesi-Pocachard, E., Falace, A., Duplomb, L., Thevenon, J., et al.(2016). A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability . European Journal of Human Genetics. 24. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 838-843.

Tagliatti, E., Fadda, M., Falace, A., Benfenati, F., Fassio, A.(2016). Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse . eLife. 5. (JANUARY2016).

Balestrini, S., Milh, M., Castiglioni, C., L&#252;thy, K., Finelli, M.J., Verstreken, P., Cardon, A., Stražišar, B.G., Holder, J.L., Lesca, G., et al.(2016). TBC1D24 genotype-phenotype correlation . Neurology. 87. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 77-85.

Vanni, N., Fruscione, F., Ferlazzo, E., Striano, P., Robbiano, A., Traverso, M., Sander, T., Falace, A., Gazzerro, E., Bramanti, P., et al.(2014). Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy . Annals of Neurology. 76. (2). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 206-212.

Falace, A., Buhler, E., Fadda, M., Watrin, F., Lippiello, P., Pallesi-Pocachard, E., Baldelli, P., Benfenati, F., Zara, F., Represa, A., et al.(2014). TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway . Proceedings of the National Academy of Sciences of the United States of America. 111. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 2337-2342.

Falace, A., Vanni, N., Mallamaci, A., Striano, P., Zara, F.(2013). Do regulatory regions matter in FOXG1 duplications . European Journal of Human Genetics. 21. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 365-366.

Milh, M., Falace, A., Villeneuve, N., Vanni, N., Cacciagli, P., Assereto, S., Nabbout, R., Benfenati, F., Zara, F., Chabrol, B., et al.(2013). Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy . Human Mutation. 34. (6). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 869-872.

Striano, P., Coppola, A., Paravidino, R., Malacarne, M., Gimelli, S., Robbiano, A., Traverso, M., Pezzella, M., Belcastro, V., Bianchi, A., et al.(2012). Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization . Archives of Neurology. 69. (3). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 322-330.

Falace, A., Filipello, F., La Padula, V., Vanni, N., Madia, F., De Pietri Tonelli, D., De Falco, F.A., Striano, P., Dagna Bricarelli, F., Minetti, C., et al.(2010). TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy . American Journal of Human Genetics. 87. (3). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 365-370.

Falace, A., Striano, P., Manganelli, F., Coppola, A., Striano, S., Minetti, C., Zara, F.(2007). Inherited neuromyotonia: A clinical and genetic study of a family . Neuromuscular Disorders. 17. (1). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 23-27.

Biancheri, R., Falace, A., Tessa, A., Pedemonte, M., Scapolan, S., Cassandrini, D., Aiello, C., Rossi, A., Broda, P., Zara, F., et al.(2007). POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes . Biochemical and Biophysical Research Communications. 363. (4). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1033-1037.

D&#39;Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., et al.(2006). Expanding the clinical spectrum of POMT1 phenotype . Neurology. 66. (10). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1564-1567.

Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D&#39;Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., et al.(2006). POMGnT1 mutations in congenital muscular dystrophy: Genotype-phenotype correlation and expanded clinical spectrum . Archives of Neurology. 63. (10). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 1491-1495.